A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402930



Internal ID22460800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100822927..100842198hg38UCSC Ensembl
chr2:101439389..101458660hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3819272
hg1919272
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5883879
Supporting Variants
Samples
Known GenesNPAS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402930
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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